FRUCT
MCID: FRC005
MIFTS: 28

Fructosuria, Essential (FRUCT)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Fructosuria, Essential

MalaCards integrated aliases for Fructosuria, Essential:

Name: Fructosuria, Essential 57 29 6 40
Fructosuria 57 76 53 75
Ketohexokinase Deficiency 57 53 59
Hepatic Fructokinase Deficiency 57 53
Essential Benign Fructosuria 53
Deficiency of Fructokinase 73
Fructokinase Deficiency 59
Essential Fructosuria 59
Ketohexokinase 13
Fruct 75

Characteristics:

Orphanet epidemiological data:

59
essential fructosuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
benign, asymptomatic defect


HPO:

32
fructosuria, essential:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 229800
Orphanet 59 ORPHA2056
MESH via Orphanet 45 C538068
ICD10 via Orphanet 34 E74.1
UMLS via Orphanet 74 C0268160
MedGen 42 C0268160
SNOMED-CT via HPO 69 258211005
UMLS 73 C0268160

Summaries for Fructosuria, Essential

OMIM : 57 Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). (229800)

MalaCards based summary : Fructosuria, Essential, also known as fructosuria, is related to fructose intolerance, hereditary and polycystic kidney disease. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase). Affiliated tissues include liver and kidney, and related phenotypes are impairment of fructose metabolism and Strongly decreased CFP-tsO45G cell surface transport

UniProtKB/Swiss-Prot : 75 Fructosuria: Benign defect of intermediary metabolism.

Wikipedia : 76 Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign... more...

Related Diseases for Fructosuria, Essential

Diseases related to Fructosuria, Essential via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fructose intolerance, hereditary 10.2
2 polycystic kidney disease 10.1
3 pentosuria 10.1
4 glycogen storage disease 10.1
5 renal cell carcinoma, nonpapillary 10.0
6 fructose utilization 10.0
7 glioma 10.0

Graphical network of the top 20 diseases related to Fructosuria, Essential:



Diseases related to Fructosuria, Essential

Symptoms & Phenotypes for Fructosuria, Essential

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
fructosuria


Clinical features from OMIM:

229800

Human phenotypes related to Fructosuria, Essential:

32
# Description HPO Frequency HPO Source Accession
1 impairment of fructose metabolism 32 HP:0011033

GenomeRNAi Phenotypes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 8.62 EMILIN1 KHK

Drugs & Therapeutics for Fructosuria, Essential

Search Clinical Trials , NIH Clinical Center for Fructosuria, Essential

Genetic Tests for Fructosuria, Essential

Genetic tests related to Fructosuria, Essential:

# Genetic test Affiliating Genes
1 Fructosuria, Essential 29 KHK

Anatomical Context for Fructosuria, Essential

MalaCards organs/tissues related to Fructosuria, Essential:

41
Liver, Kidney

Publications for Fructosuria, Essential

Articles related to Fructosuria, Essential:

# Title Authors Year
1
A mathematical analysis of adaptations to the metabolic fate of fructose in essential fructosuria subjects. ( 29664676 )
2018
2
Ketohexokinase knockout mice, a model for essential fructosuria, exhibit altered fructose metabolism and are protected from diet-induced metabolic defects. ( 29870677 )
2018
3
[Essential fructosuria (hepatic fructokinase deficiency)]. ( 9589995 )
1998
4
The diagnosis of the less common meliturias; including pentosuria and fructosuria. ( 20293074 )
1947

Variations for Fructosuria, Essential

UniProtKB/Swiss-Prot genetic disease variations for Fructosuria, Essential:

75
# Symbol AA change Variation ID SNP ID
1 KHK p.Gly40Arg VAR_006072 rs104893643
2 KHK p.Ala43Thr VAR_006073 rs104893644

ClinVar genetic disease variations for Fructosuria, Essential:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 KHK NM_000221.2(KHK): c.118G> A (p.Gly40Arg) single nucleotide variant Affects rs104893643 GRCh37 Chromosome 2, 27315225: 27315225
2 KHK NM_000221.2(KHK): c.118G> A (p.Gly40Arg) single nucleotide variant Affects rs104893643 GRCh38 Chromosome 2, 27092357: 27092357
3 KHK NM_000221.2(KHK): c.127G> A (p.Ala43Thr) single nucleotide variant Affects rs104893644 GRCh37 Chromosome 2, 27315234: 27315234
4 KHK NM_000221.2(KHK): c.127G> A (p.Ala43Thr) single nucleotide variant Affects rs104893644 GRCh38 Chromosome 2, 27092366: 27092366
5 KHK NM_000221.2(KHK): c.-449T> G single nucleotide variant Likely benign rs116028777 GRCh37 Chromosome 2, 27309679: 27309679
6 KHK NM_000221.2(KHK): c.-449T> G single nucleotide variant Likely benign rs116028777 GRCh38 Chromosome 2, 27086811: 27086811
7 KHK NM_000221.2(KHK): c.-15T> G single nucleotide variant Uncertain significance rs763655731 GRCh37 Chromosome 2, 27310113: 27310113
8 KHK NM_000221.2(KHK): c.-15T> G single nucleotide variant Uncertain significance rs763655731 GRCh38 Chromosome 2, 27087245: 27087245
9 KHK NM_000221.2(KHK): c.473C> A (p.Thr158Asn) single nucleotide variant Uncertain significance rs773003580 GRCh37 Chromosome 2, 27320426: 27320426
10 KHK NM_000221.2(KHK): c.473C> A (p.Thr158Asn) single nucleotide variant Uncertain significance rs773003580 GRCh38 Chromosome 2, 27097558: 27097558
11 KHK NM_000221.2(KHK): c.499C> T (p.Arg167Trp) single nucleotide variant Uncertain significance rs886055887 GRCh38 Chromosome 2, 27097584: 27097584
12 KHK NM_000221.2(KHK): c.499C> T (p.Arg167Trp) single nucleotide variant Uncertain significance rs886055887 GRCh37 Chromosome 2, 27320452: 27320452
13 KHK NM_000221.2(KHK): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs201707861 GRCh38 Chromosome 2, 27097585: 27097585
14 KHK NM_000221.2(KHK): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs201707861 GRCh37 Chromosome 2, 27320453: 27320453
15 KHK NM_000221.2(KHK): c.557G> A (p.Gly186Glu) single nucleotide variant Uncertain significance rs886055888 GRCh38 Chromosome 2, 27097642: 27097642
16 KHK NM_000221.2(KHK): c.557G> A (p.Gly186Glu) single nucleotide variant Uncertain significance rs886055888 GRCh37 Chromosome 2, 27320510: 27320510
17 KHK NM_000221.2(KHK): c.643G> C (p.Val215Leu) single nucleotide variant Uncertain significance rs886055889 GRCh38 Chromosome 2, 27099274: 27099274
18 KHK NM_000221.2(KHK): c.643G> C (p.Val215Leu) single nucleotide variant Uncertain significance rs886055889 GRCh37 Chromosome 2, 27322142: 27322142
19 KHK NM_000221.2(KHK): c.*24_*25delAC deletion Likely benign rs886055891 GRCh38 Chromosome 2, 27099774: 27099775
20 KHK NM_000221.2(KHK): c.*24_*25delAC deletion Likely benign rs886055891 GRCh37 Chromosome 2, 27322642: 27322643
21 KHK NM_000221.2(KHK): c.*27A> G single nucleotide variant Uncertain significance rs189674797 GRCh38 Chromosome 2, 27099777: 27099777
22 KHK NM_000221.2(KHK): c.*27A> G single nucleotide variant Uncertain significance rs189674797 GRCh37 Chromosome 2, 27322645: 27322645
23 KHK NM_000221.2(KHK): c.*28T> C single nucleotide variant Uncertain significance rs745543858 GRCh38 Chromosome 2, 27099778: 27099778
24 KHK NM_000221.2(KHK): c.*28T> C single nucleotide variant Uncertain significance rs745543858 GRCh37 Chromosome 2, 27322646: 27322646
25 KHK NM_000221.2(KHK): c.*198A> C single nucleotide variant Uncertain significance rs886055893 GRCh38 Chromosome 2, 27099948: 27099948
26 KHK NM_000221.2(KHK): c.*198A> C single nucleotide variant Uncertain significance rs886055893 GRCh37 Chromosome 2, 27322816: 27322816
27 KHK NM_000221.2(KHK): c.*469G> A single nucleotide variant Uncertain significance rs187387157 GRCh38 Chromosome 2, 27100219: 27100219
28 KHK NM_000221.2(KHK): c.*469G> A single nucleotide variant Uncertain significance rs187387157 GRCh37 Chromosome 2, 27323087: 27323087
29 KHK NM_000221.2(KHK): c.*505G> A single nucleotide variant Uncertain significance rs78939351 GRCh38 Chromosome 2, 27100255: 27100255
30 KHK NM_000221.2(KHK): c.*505G> A single nucleotide variant Uncertain significance rs78939351 GRCh37 Chromosome 2, 27323123: 27323123
31 KHK NM_000221.2(KHK): c.*810A> C single nucleotide variant Uncertain significance rs543665606 GRCh37 Chromosome 2, 27323428: 27323428
32 KHK NM_000221.2(KHK): c.*810A> C single nucleotide variant Uncertain significance rs543665606 GRCh38 Chromosome 2, 27100560: 27100560
33 KHK NM_000221.2(KHK): c.-444C> A single nucleotide variant Likely benign rs116365550 GRCh37 Chromosome 2, 27309684: 27309684
34 KHK NM_000221.2(KHK): c.-444C> A single nucleotide variant Likely benign rs116365550 GRCh38 Chromosome 2, 27086816: 27086816
35 KHK NM_000221.2(KHK): c.-379T> A single nucleotide variant Uncertain significance rs886055883 GRCh37 Chromosome 2, 27309749: 27309749
36 KHK NM_000221.2(KHK): c.-379T> A single nucleotide variant Uncertain significance rs886055883 GRCh38 Chromosome 2, 27086881: 27086881
37 KHK NM_000221.2(KHK): c.-324C> T single nucleotide variant Likely benign rs114973335 GRCh37 Chromosome 2, 27309804: 27309804
38 KHK NM_000221.2(KHK): c.-324C> T single nucleotide variant Likely benign rs114973335 GRCh38 Chromosome 2, 27086936: 27086936
39 KHK NM_000221.2(KHK): c.-245G> A single nucleotide variant Uncertain significance rs192615638 GRCh37 Chromosome 2, 27309883: 27309883
40 KHK NM_000221.2(KHK): c.-245G> A single nucleotide variant Uncertain significance rs192615638 GRCh38 Chromosome 2, 27087015: 27087015
41 KHK NM_000221.2(KHK): c.-140G> A single nucleotide variant Uncertain significance rs886055884 GRCh37 Chromosome 2, 27309988: 27309988
42 KHK NM_000221.2(KHK): c.-140G> A single nucleotide variant Uncertain significance rs886055884 GRCh38 Chromosome 2, 27087120: 27087120
43 KHK NM_000221.2(KHK): c.159C> T (p.Leu53=) single nucleotide variant Uncertain significance rs112920456 GRCh37 Chromosome 2, 27315266: 27315266
44 KHK NM_000221.2(KHK): c.159C> T (p.Leu53=) single nucleotide variant Uncertain significance rs112920456 GRCh38 Chromosome 2, 27092398: 27092398
45 KHK NM_000221.2(KHK): c.210-11C> T single nucleotide variant Uncertain significance rs368871098 GRCh37 Chromosome 2, 27317334: 27317334
46 KHK NM_000221.2(KHK): c.210-11C> T single nucleotide variant Uncertain significance rs368871098 GRCh38 Chromosome 2, 27094466: 27094466
47 KHK NM_000221.2(KHK): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs886055886 GRCh37 Chromosome 2, 27317385: 27317385
48 KHK NM_000221.2(KHK): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs886055886 GRCh38 Chromosome 2, 27094517: 27094517
49 KHK NM_000221.2(KHK): c.*52C> T single nucleotide variant Uncertain significance rs747976594 GRCh38 Chromosome 2, 27099802: 27099802
50 KHK NM_000221.2(KHK): c.*52C> T single nucleotide variant Uncertain significance rs747976594 GRCh37 Chromosome 2, 27322670: 27322670

Expression for Fructosuria, Essential

Search GEO for disease gene expression data for Fructosuria, Essential.

Pathways for Fructosuria, Essential

GO Terms for Fructosuria, Essential

Biological processes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 8.62 CGREF1 EMILIN1

Sources for Fructosuria, Essential

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9 Cosmic
10 dbSNP
11 DGIdb
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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